A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5245



Internal ID15203349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30866574..30899725hg38UCSC Ensembl
Outerchr6:30834351..30867502hg19UCSC Ensembl
Outerchr6:30942330..30975481hg18UCSC Ensembl
Outerchr6:30942330..30975481hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg386123
hg196123
hg186123
hg176123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4906
SamplesNA19129
Known GenesDDR1, MIR4640
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5245
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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